News

Blueprint Genetics is excited to introduce new and updated cardiology panels

Published on September 28, 2016

To date, thousands of cardiology patients around the world have been analyzed with our proprietary OS-Seq technology-based panels and by our team of experts in the field. High annual patient volumes in rare hereditary cardiac diseases have made us one of the leading laboratories in the world. We have used …

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Supporting all 2nd year students of Canadian Genetic Counselling programs by covering the registration fee for attending the NSGC

Published on August 30, 2016

Blueprint Genetics is dedicated to advancing genetic research and diagnostics and bringing the #GeneticKnowledge into mainstream healthcare. Therefore, we are happy to support the education of genetic counselling, genetics and genomics by covering the registration fee of $250 USD to every second year student enrolled in Canadian genetic …

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A new innovative CNV analysis for genetic diagnostics

Published on May 12, 2016

Whole Genome Del/Dup (CNV) Introducing a new innovative first line genetic diagnostic product for patients with clinical suspicion of large chromosomal abnormalities and microdeletion/microduplication syndromes. Blueprint Genetics’ utilizes Whole Genome Sequencing combined with a dedicated analysis pipeline to evaluate deletions and duplications (copy number variations, CNVs) in the genome. Our technology has …

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How we classify genetic variants when interpreting patients results

Published on March 5, 2016

In genetic diagnostics, variant classification forms the basis for clinical judgment. Despite the international guidelines and principles, there is still significant inter-laboratory variation in classification of genetic variants. A wrong classification can misguide the clinical judgment in patient care including severe consequences in risk stratification among family members. Blueprint Genetics is dedicated to …

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From sample to diagnosis – genetic testing with Blueprint Genetics

Published on March 5, 2016

Monogenic diseases are caused by a single defective gene that occurs in all cells throughout the body. Geneticists have identified approximately 7,500 inherited diseases in humans that affect millions of people worldwide. Although the global prevalence is relatively rare, affecting roughly 5 in 100 people from birth, these diseases place …

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Introducing 210 new genetic tests, covering over 2,000 genes.

Published on March 2, 2016

Providing actionable genetic knowledge for all medical specialties Join us at ACMG, where we are excited to introduce 210 new tests bringing our world-class testing and interpretation to all medical specialties. Learn about our revolutionary clinical interpretation process, powered by IBM Watson, which makes it possible …

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Blueprint Genetics is one of the most promising growth companies in Finland

Published on February 5, 2016

Blueprint Genetics has been chosen as one of the top 20 most promising growth companies in 2016 by Talouselämä. Talouselämä, a Finnish weekly financial and business magazine, has chosen the most promising start-up companies in Finland for the fifth year in a row. The jury judged the growth and internationalization possibilities …

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Blueprint Genetics becomes the first laboratory to receive ISO 15189 accreditation for a NGS pipeline from sample arrival to clinical interpretation

Published on February 2, 2016

Blueprint Genetics is now an ISO 15189 standard accredited No. T292 laboratory. Accreditation is a procedure to recognize an organization’s competence to carry out specific tasks based on internationally agreed criteria. The quality management system at Blueprint Genetics complies with the international ISO 15189 standard, which specifies the quality requirements for medical …

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Relevance of Truncating Titin Mutations in Dilated Cardiomyopathy

Published on January 28, 2016

As a continuation to Blueprint Genetics recent collaborative studies on genetics of dilated cardiomyopathy (DCM) (Eur Heart J 2015 and PlosOne 2015), we performed meta-analysis of truncating titin variants in DCM. Others and we have previously estimated TTN truncating variants (TTNtv) – nonsense, frameshift and consensus splice site, to be responsible for …

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Prevalence of Titin Truncating Variants in General Population

Published on January 11, 2016

As a continuation to Blueprint Genetics recent collaborative study on genetics of dilated cardiomyopathy (Eur Heart J 2015), we were enthusiastic to further evaluate variation of titin gene in large reference populations. This is an important step towards a better understanding of the titin truncations in cardiomyopathies. Earlier studies have …

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2015 was great for genetic diagnostics but 2016 will be even better

Published on December 18, 2015

As the holiday season is approaching, we want to thank all of our customers, partners and collaborators for the great year. During 2015 we expanded into new territories and had the privilege to learn from and work with physicians and researchers from all over the world. We are very pleased …

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Blueprint Genetics receives California CLIA State License and launches diagnostics sales in California.

Published on November 3, 2015

We are thrilled to start providing customers in California with our world-class genetic testing and diagnostics!   Blueprint Genetics is a CLIA certified laboratory for high complexity testing (#99D2092375) approved by US authorities (Centers of Medicare & Medicaid Services – Clinical Laboratory Improvement Amendment Survey and Certificate Group) qualifying us to operate …

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Looking ahead—expanding to cover all inherited disorders

Published on October 8, 2015

During the last couple of years, we’ve focused our efforts on developing our cardiovascular diagnostics. This emphasis has helped establish our place as one of the leading global providers of cardiovascular genetic diagnostics. As of March 2016, we are taking the company to a next level by radically expanding our …

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Frontiers in molecular genetic diagnostics of pulmonary arterial hypertension (PAH)

Published on September 2, 2015

Genetic basis of pulmonary arterial hypertension (PAH) is well recognised but still rarely utilized in diagnostics setting. Diagnostic yield of comprehensive multi-gene panels in PAH is relatively unknown as current knowledge is gathered from studies evaluating only one gene at a time in a heterogenous patient populations.  Finnish PAH …

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Investigating the genetic landscape of DCM in the Finnish population

Published on August 27, 2015

To explore the underlying genetic defects of dilated cardiomyopathy (DCM) we applied OS-Seq technology as a novel comprehensive diagnostic tool. Despite our increasing understanding of the genetics of DCM the genetic basis of the disease is still poorly understood. We were able to identify pathogenic variants in 47.6% of the …

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Come meet us this spring at HRS, AEPC and ESHG

Published on April 13, 2015

We are continuously participating in events around the world. Come meet us at the following conferences during spring and summer 2015. More details about our participation, booth number etc. are also found on our Facebook page.    HRS – Heart Rhythm 2015 36th Annual Scientific …

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Exceptional findings with OS-Seq in an arrhythmia patient

Published on April 9, 2015

Sequencing of channelopathy genes with the BpG Arrhythmia Panel revealed a de novo mutation in the CACNA1C gene in an adolescent with ventricular fibrillation but normal development, consequently not only expanding the phenotype of Timothy Syndrome Type 2 but also demonstrating the power of large gene panels. The standard has been to select specific gene tests for patients with established …

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